GFI1 growth factor independent 1 transcriptional repressor [Homo sapiens (human)] - Gene

Summary

Official Symbol: GFI1provided by HGNC
Official Full Name: growth factor independent 1 transcriptional repressorprovided by HGNC
Primary source: HGNC:HGNC:4237
See related: Ensembl:ENSG00000162676 MIM:600871; AllianceGenome:HGNC:4237
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCN2; GFI-1; GFI1A; ZNF163
Summary: This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in bone marrow (RPKM 11.4), lymph node (RPKM 2.0) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (92473043..92486925, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (92317932..92331836, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (92938600..92952482, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and Apoptosis of Human Bone Marrow Mesenchymal Stem Cells.
Title: DLEU2/EZH2/GFI1 Axis Regulates the Proliferation and Apoptosis of Human Bone Marrow Mesenchymal Stem Cells.
Dose-dependent expression of GFI1 alters metabolism in the haematopoietic progenitors and MLL::AF9-induced leukaemic cells.
Title: Dose-dependent expression of GFI1 alters metabolism in the haematopoietic progenitors and MLL::AF9-induced leukaemic cells.
Hematopoietic transcription factor GFI1 promotes anchorage independence by sustaining ERK activity in cancer cells.
Title: Hematopoietic transcription factor GFI1 promotes anchorage independence by sustaining ERK activity in cancer cells.
GFI1 regulates chromatin state essential in human endothelial-to-haematopoietic transition.
Title: GFI1 regulates chromatin state essential in human endothelial-to-haematopoietic transition.
GFI1 Cooperates with IKZF1/IKAROS to Activate Gene Expression in T-cell Acute Lymphoblastic Leukemia.
Title: GFI1 Cooperates with IKZF1/IKAROS to Activate Gene Expression in T-cell Acute Lymphoblastic Leukemia.
DNA methylation of GFI1 as a mediator of the association between prenatal smoking exposure and ADHD symptoms at 6 years: the Hokkaido Study on Environment and Children's Health.
Title: DNA methylation of GFI1 as a mediator of the association between prenatal smoking exposure and ADHD symptoms at 6 years: the Hokkaido Study on Environment and Children's Health.
GFI1 promotes the proliferation and migration of esophageal squamous cell carcinoma cells through the inhibition of SOCS1 expression.
Title: GFI1 promotes the proliferation and migration of esophageal squamous cell carcinoma cells through the inhibition of SOCS1 expression.
The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.
Title: The transcription factors GFI1 and GFI1B as modulators of the innate and acquired immune response.
Epigenetic Regulation of Gfi1 in Endocrine-Related Cancers: a Role Regulating Tumor Growth.
Title: Epigenetic Regulation of Gfi1 in Endocrine-Related Cancers: a Role Regulating Tumor Growth.
Gfi1 upregulates c-Myc expression and promotes c-Myc-driven cell proliferation.
Title: Gfi1 upregulates c-Myc expression and promotes c-Myc-driven cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neutropenia, severe congenital, 2, autosomal dominant MedGen: C2751288 OMIM: 613107 GeneReviews: Not available	Compare labs
Nonimmune chronic idiopathic neutropenia of adults MedGen: C1842930 OMIM: 607847 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2024-07-22) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2024-07-22) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482048

GFI1_442 (e-PCR)
- UniSTS:277279

NoName (e-PCR)
- UniSTS:481067

D1S3707E (e-PCR)
- UniSTS:474522

D1S3708E (e-PCR)
- UniSTS:474523

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme-substrate adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to lipopolysaccharide	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of NF-kappaB transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of calcidiol 1-monooxygenase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vitamin D biosynthetic process	IC Inferred by Curator more info	PubMed
involved_in positive regulation of interleukin-6-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of toll-like receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in nuclear body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear matrix	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription repressor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger protein Gfi-1

Names: growth factor independence-1; growth factor independent 1 transcription repressor; growth factor independent protein 1; zinc finger protein 163

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007874.1 RefSeqGene

Range

5001..17116

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_63

mRNA and Protein(s)

NM_001127215.3 → NP_001120687.1 zinc finger protein Gfi-1

See identical proteins and their annotated locations for NP_001120687.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC104456, AK123009, AK313876, AW086150, BC032751, BQ336135, DA927584

Consensus CDS

CCDS30773.1

UniProtKB/Swiss-Prot

Q8N564, Q99684

Related

ENSP00000359357.1, ENST00000370332.5

Conserved Domains (2) summary

COG5048
Location:254 → 416

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:314 → 334

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_001127216.3 → NP_001120688.1 zinc finger protein Gfi-1

See identical proteins and their annotated locations for NP_001120688.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC104456, AK123009, AW086150, BC032751, BQ336135, DA927584, DA938896

Consensus CDS

CCDS30773.1

UniProtKB/Swiss-Prot

Q8N564, Q99684

Related

ENSP00000399719.1, ENST00000427103.6

Conserved Domains (2) summary

COG5048
Location:254 → 416

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:314 → 334

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_005263.5 → NP_005254.2 zinc finger protein Gfi-1

See identical proteins and their annotated locations for NP_005254.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.

Source sequence(s)

AC104456, AK123009, AW086150, BE242676, BQ336135, DA927584, DB129173

Consensus CDS

CCDS30773.1

UniProtKB/Swiss-Prot

Q8N564, Q99684

Related

ENSP00000294702.5, ENST00000294702.6

Conserved Domains (2) summary

COG5048
Location:254 → 416

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:314 → 334

ZF_C2H2; C2H2 Zn finger [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

92473043..92486925 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011541246.3 → XP_011539548.1 zinc finger protein Gfi-1 isoform X1

See identical proteins and their annotated locations for XP_011539548.1

UniProtKB/Swiss-Prot

Q8N564, Q99684

Conserved Domains (2) summary

COG5048
Location:254 → 416

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:314 → 334

ZF_C2H2; C2H2 Zn finger [structural motif]
XM_011541245.3 → XP_011539547.1 zinc finger protein Gfi-1 isoform X1

See identical proteins and their annotated locations for XP_011539547.1

UniProtKB/Swiss-Prot

Q8N564, Q99684

Conserved Domains (2) summary

COG5048
Location:254 → 416

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:314 → 334

ZF_C2H2; C2H2 Zn finger [structural motif]
XM_005270749.4 → XP_005270806.1 zinc finger protein Gfi-1 isoform X1

See identical proteins and their annotated locations for XP_005270806.1

UniProtKB/Swiss-Prot

Q8N564, Q99684

Conserved Domains (2) summary

COG5048
Location:254 → 416

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:314 → 334

ZF_C2H2; C2H2 Zn finger [structural motif]

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

92317932..92331836 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054335977.1 → XP_054191952.1 zinc finger protein Gfi-1 isoform X1

UniProtKB/Swiss-Prot

Q8N564, Q99684
XM_054335978.1 → XP_054191953.1 zinc finger protein Gfi-1 isoform X1

UniProtKB/Swiss-Prot

Q8N564, Q99684
XM_054335979.1 → XP_054191954.1 zinc finger protein Gfi-1 isoform X1

UniProtKB/Swiss-Prot

Q8N564, Q99684
XM_054335980.1 → XP_054191955.1 zinc finger protein Gfi-1 isoform X1

UniProtKB/Swiss-Prot

Q8N564, Q99684